Aliases for TGM3 Gene
External Ids for TGM3 Gene
Previous GeneCards Identifiers for TGM3 Gene
Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]
GeneCards Summary for TGM3 Gene
TGM3 (Transglutaminase 3) is a Protein Coding gene. Diseases associated with TGM3 include Uncombable Hair Syndrome 2 and Uncombable Hair Syndrome 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is ENSG00000286022.
UniProtKB/Swiss-Prot Summary for TGM3 Gene
Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold (By similarity). In hair follicles, involved in cross-linking structural proteins to hardening the inner root sheath.